FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital merosin-deficient muscular dystrophy 1A ID (Ontology) DOID:0110636 (Human Disease)
Definition A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22.
Also Known As "CMD1A" ; "congenital muscular dystrophy due to laminin alpha2 deficiency" ; "MDC1A" (for all, see Synonyms field below)
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 Genes
 congenital merosin-deficient muscular dystrophy 1A       1
 for disease ribbon | congenital merosin-deficient muscular dystrophy 1A       1
 model of | congenital merosin-deficient muscular dystrophy 1A       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____
physical disorder                  |
 |__congenital muscular dystrophy__|
muscular dystrophy                 |
 |__congenital muscular dystrophy__|
                                   congenital merosin-deficient muscular dystrophy 1A  1 rec.
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Is a congenital muscular dystrophy
autosomal recessive disease
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Synonyms
  • "CMD1A" EXACT OMO:0003012
    "congenital muscular dystrophy due to laminin alpha2 deficiency" EXACT
    "MDC1A" EXACT OMO:0003012
    "Merosin-negative congenital muscular dystrophy" EXACT
Secondary IDs
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MESH:C537384
MIM:607855
NCI:C118783
ORDO:258
SNOMEDCT_US_2023_03_01:787037000
UMLS_CUI:C1263858